TY - JOUR
T1 - The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease
AU - Antúnez, Carmen
AU - Boada, Mercè
AU - González-Pérez, Antonio
AU - Gayán, Javier
AU - Ramírez-Lorca, Reposo
AU - Marín, Juan
AU - Hernández, Isabel
AU - Moreno-Rey, Concha
AU - Morón, Francisco J.
AU - López-Arrieta, Jesús
AU - Mauleón, Ana
AU - Rosende-Roca, Maitée
AU - Noguera-Perea, Fuensanta
AU - Legaz-García, Agustina
AU - Vivancos-Moreau, Laura
AU - Velasco, Juan
AU - Carrasco, José M.
AU - Alegret, Montserrat
AU - Antequera-Torres, Martirio
AU - Manzanares, Salvadora
AU - Romo, Alejandro
AU - Blanca, Irene
AU - Ruiz, Susana
AU - Espinosa, Anna
AU - Castaño, Sandra
AU - García, Blanca
AU - Martínez-Herrada, Begoña
AU - Vinyes, Georgina
AU - Lafuente, Asunción
AU - Becker, James T.
AU - Galán, José J.
AU - Serrano-Ríos, Manuel
AU - Ruiz, null
AU - Vázquez, Enrique
AU - Tárraga, Lluís
AU - Sáez, María E.
AU - López, Oscar L.
AU - Real, Luis M.
AU - Ruiz, Agustín
PY - 2011/5/31
Y1 - 2011/5/31
N2 - Background: In order to identify novel loci associated with Alzheimer's disease (AD), we conducted a genome-wide association study (GWAS) in the Spanish population.Methods: We genotyped 1,128 individuals using the Affymetrix Nsp I 250K chip. A sample of 327 sporadic AD patients and 801 controls with unknown cognitive status from the Spanish general population were included in our initial study. To increase the power of the study, we combined our results with those of four other public GWAS datasets by applying identical quality control filters and the same imputation methods, which were then analyzed with a global meta-GWAS. A replication sample with 2,200 sporadic AD patients and 2,301 controls was genotyped to confirm our GWAS findings.Results: Meta-analysis of our data and independent replication datasets allowed us to confirm a novel genome-wide significant association of AD with the membrane-spanning 4-domains subfamily A (MS4A) gene cluster (rs1562990, P = 4.40E-11, odds ratio = 0.88, 95% confidence interval 0.85 to 0.91, n = 10,181 cases and 14,341 controls).Conclusions: Our results underscore the importance of international efforts combining GWAS datasets to isolate genetic loci for complex diseases. © 2011 Antúnez et al.; licensee BioMed Central Ltd.
AB - Background: In order to identify novel loci associated with Alzheimer's disease (AD), we conducted a genome-wide association study (GWAS) in the Spanish population.Methods: We genotyped 1,128 individuals using the Affymetrix Nsp I 250K chip. A sample of 327 sporadic AD patients and 801 controls with unknown cognitive status from the Spanish general population were included in our initial study. To increase the power of the study, we combined our results with those of four other public GWAS datasets by applying identical quality control filters and the same imputation methods, which were then analyzed with a global meta-GWAS. A replication sample with 2,200 sporadic AD patients and 2,301 controls was genotyped to confirm our GWAS findings.Results: Meta-analysis of our data and independent replication datasets allowed us to confirm a novel genome-wide significant association of AD with the membrane-spanning 4-domains subfamily A (MS4A) gene cluster (rs1562990, P = 4.40E-11, odds ratio = 0.88, 95% confidence interval 0.85 to 0.91, n = 10,181 cases and 14,341 controls).Conclusions: Our results underscore the importance of international efforts combining GWAS datasets to isolate genetic loci for complex diseases. © 2011 Antúnez et al.; licensee BioMed Central Ltd.
U2 - 10.1186/gm249
DO - 10.1186/gm249
M3 - Article
SN - 1756-994X
VL - 3
JO - Genome Medicine
JF - Genome Medicine
IS - 5
M1 - 33
ER -